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| Mendeliome v2.122 | SH2B1 | chirag patel Marked gene: SH2B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.122 | SH2B1 | chirag patel Gene: sh2b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.122 | SH2B1 | chirag patel Classified gene: SH2B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.122 | SH2B1 | chirag patel Gene: sh2b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.121 | SH2B1 |
chirag patel gene: SH2B1 was added gene: SH2B1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: SH2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SH2B1 were set to 37329217; 31439647; 29216354 Phenotypes for gene: SH2B1 were set to Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994 Review for gene: SH2B1 was set to GREEN Added comment: PMID 31439647 reports 16 unrelated individuals with severe early‑onset obesity, hyperphagia, insulin resistance and neurobehavioral abnormalities (learning difficulties, dyspraxia, ASD, ADHD, aggression/emotional lability, anxiety). They identified 15 rare heterozygous missense variants in SH2B1, but no segregation data is available. Seven of 15 variants were shown to impair the ability of SH2B1b to stimulate NGF-induced neurite outgrowth. Mouse models null for Sh2b1 exhibited obesity, impaired glucose homeostasis, and often, aggressive behaviour. PMID 37329217 describes 4 individuals with severe early‑onset obesity, hyperphagia, insulin resistance and hepatosplenomegaly. They reported 5 missense variants (3 heterozygous, 1 compound heterozygous) but lacked segregation data and functional validation, and the variants were classified as VUS. PMID 29216354 reports a single heterozygous missense variant whose allele frequency (0.47% in Africans) exceeds the dominant disease threshold and for which parental status is unknown. Sources: Literature |
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